Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663379_36663382dup , CM000676.2:g.36663379_36663382dup | GRCh38 |
| NC_000014.8:g.37132584_37132587dup , CM000676.1:g.37132584_37132587dup | GRCh37 |
| NC_000014.7:g.36202335_36202338dup | NCBI36 |
| NG_013357.1:g.10812_10815dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.487_490dup MANE Select | ENSP00000355245.6:p.Ser164ThrfsTer? | |
| ENST00000361487.6:c.487_490dup | ENSP00000355245.6:p.Ser164ThrfsTer? | |
| ENST00000402703.6:c.487_490dup | ENSP00000384817.2:p.Ser164ThrfsTer? | |
| ENST00000554201.1:c.-75_-72dup | ENSP00000450434.1:n.-75_-72dup | |
| NM_006194.3:c.487_490dup | NP_006185.1:p.Ser164ThrfsTer? | |
| NM_001372076.1:c.487_490dup MANE Select | NP_001359005.1:p.Ser164ThrfsTer? | |
| NM_006194.4:c.487_490dup | NP_006185.1:p.Ser164ThrfsTer? |